Inverted duplications deletions: underdiagnosed rearrangements??
نویسندگان
چکیده
منابع مشابه
Inversions with deletions and duplications.
Complex mutational events, including de novo inversion with deletion and duplication of sequence, have been observed but are difficult to model. We propose that nascent leading-strand misalignment upon the lagging-strand template during DNA replication can result in the inversion of sequence. The positioning of this misalignment and of the realignment of the leading strand back into the leading...
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MOTIVATION Large-scale evolutionary events such as genomic rearrange.ments and segmental duplications form an important part of the evolution of genomes and are widely studied from both biological and computational perspectives. A basic computational problem is to infer these events in the evolutionary history for given modern genomes, a task for which many algorithms have been proposed under v...
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Recently, detailed statistical analyses of sequenced genomes have provided support for the “evolution by duplication” theory proposed by S. Ohno. Based on Ohno’s theory, we suggest a parsimonious model consisting of substitutions, duplications, and deletions, and estimate the parameters of this model at various scales (word sizes) over several genomes. We conclude that deletions play as critica...
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Gene and chromosome duplications have been implicated as fundamental evolutionary mechanisms (Ohno et al.,1968; Li and Gojobori, 1983; Schughart et al., 1989). For the purpose of this chapter, duplications and deletions are defined as those too large to be routinely detected by sequencing or simple PCR-based methods (100 bp), but too small to be detected by conventional cytogenetic metaphase a...
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BACKGROUND X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants. METHODS Array CGH analysis was performed using chromosomal microarray with ∼105 000 oligonucleotides covering the entire genome. Confirmatory fluore...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2009
ISSN: 0009-9163,1399-0004
DOI: 10.1111/j.1399-0004.2009.01187.x